Canonical Allele Identifier: CA315465

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 21767
• ClinVar RCV Id: RCV000187913 ; RCV000678060 ; RCV001248564
• dbSNP Id: rs118192234
• MyVariant Identifiers: chr20:g.62044908C>T (hg19) ; chr20:g.63413555C>T (hg38)
• PubMed: PMID:11690625 ; PMID:12754513 ; PMID:20437616 ; PMID:24375629

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413555C>T , CM000682.2:g.63413555C>T	GRCh38
NC_000020.10:g.62044908C>T , CM000682.1:g.62044908C>T	GRCh37
NC_000020.9:g.61515352C>T	NCBI36
NG_009004.1:g.64086G>A
NG_009004.2:g.64086G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1604G>A	ENSP00000516702.1:p.Arg535Gln
ENST00000359125.7:c.1658G>A MANE Select	ENSP00000352035.2:p.Arg553Gln
ENST00000637193.1:c.1055G>A	ENSP00000490734.1:p.Arg352Gln
ENST00000344462.8:c.1565G>A	ENSP00000339611.4:p.Arg522Gln
ENST00000357249.6:c.1226G>A	ENSP00000349789.3:p.Arg409Gln
ENST00000359125.6:c.1658G>A	ENSP00000352035.2:p.Arg553Gln
ENST00000360480.7:c.1574G>A	ENSP00000353668.3:p.Arg525Gln
ENST00000370224.5:c.1574G>A	ENSP00000359244.2:p.Arg525Gln
ENST00000625514.2:c.1538G>A	ENSP00000486040.1:p.Arg513Gln
ENST00000626839.2:c.1604G>A	ENSP00000486706.1:p.Arg535Gln
ENST00000629241.2:c.1574G>A	ENSP00000487142.1:p.Arg525Gln
ENST00000629318.1:c.266G>A	ENSP00000487384.1:p.Arg89Gln
ENST00000629676.2:c.1574G>A	ENSP00000486194.1:p.Arg525Gln
NM_004518.4:c.1574G>A	NP_004509.2:p.Arg525Gln
NM_172106.1:c.1604G>A	NP_742104.1:p.Arg535Gln
NM_172107.2:c.1658G>A	NP_742105.1:p.Arg553Gln
NM_172108.3:c.1565G>A	NP_742106.1:p.Arg522Gln
XM_006723787.1:c.1658G>A	XP_006723850.1:p.Arg553Gln
XM_011528807.1:c.1658G>A	XP_011527109.1:p.Arg553Gln
XM_011528808.1:c.1655G>A	XP_011527110.1:p.Arg552Gln
XM_011528809.1:c.1628G>A	XP_011527111.1:p.Arg543Gln
XM_011528810.1:c.1604G>A	XP_011527112.1:p.Arg535Gln
XM_011528811.1:c.1574G>A	XP_011527113.1:p.Arg525Gln
XM_011528812.1:c.1655G>A	XP_011527114.1:p.Arg552Gln
XM_011528813.1:c.1532G>A	XP_011527115.1:p.Arg511Gln
XM_011528814.1:c.1139G>A	XP_011527116.1:p.Arg380Gln
XM_011528815.1:c.1658G>A	XP_011527117.1:p.Arg553Gln
NM_004518.5:c.1574G>A	NP_004509.2:p.Arg525Gln
NM_172106.2:c.1604G>A	NP_742104.1:p.Arg535Gln
NM_172107.3:c.1658G>A	NP_742105.1:p.Arg553Gln
NM_172108.4:c.1565G>A	NP_742106.1:p.Arg522Gln
XM_011528810.2:c.1604G>A	XP_011527112.1:p.Arg535Gln
XM_011528811.2:c.1574G>A	XP_011527113.1:p.Arg525Gln
XM_017027841.2:c.1601G>A	XP_016883330.1:p.Arg534Gln
XM_017027842.2:c.1604G>A	XP_016883331.1:p.Arg535Gln
XM_017027843.1:c.1535G>A	XP_016883332.1:p.Arg512Gln
XM_017027844.2:c.1601G>A	XP_016883333.1:p.Arg534Gln
XM_017027845.1:c.566G>A	XP_016883334.1:p.Arg189Gln
NM_004518.6:c.1574G>A	NP_004509.2:p.Arg525Gln
NM_172106.3:c.1604G>A	NP_742104.1:p.Arg535Gln
NM_172107.4:c.1658G>A MANE Select	NP_742105.1:p.Arg553Gln
NM_172108.5:c.1565G>A	NP_742106.1:p.Arg522Gln
NM_001382235.1:c.1604G>A	NP_001369164.1:p.Arg535Gln